CACNB1
Description
The CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1) is a protein-coding gene located on chromosome 17.
CACNB1 is a protein encoded by the CACNB1 gene. It belongs to the calcium channel beta subunit family and plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting, and shifting the voltage dependence of activation and inactivation. Three transcript variants encoding three distinct isoforms have been identified. Mutations in CACNB1 are associated with Malignant Hyperthermia, Congenital Myopathy, Alzheimer's Disease, and Autism Spectrum Disorder.
CACNB1 is a regulatory subunit of L-type calcium channels. It regulates the activity of L-type calcium channels that contain CACNA1A, CACNA1B, CACNA1C, or CACNA1D as pore-forming subunits. It is required for the functional expression of L-type calcium channels that contain CACNA1D as the pore-forming subunit. CACNB1 increases the presence of the L-type calcium channel complex at the cell membrane when CACNA1C is the pore-forming subunit.
CACNB1 is also known as CAB1, CACNLB1, CCHLB1.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- endometrial cancer
- myopathy, centronuclear, 6, with fiber-type disproportion
- autosomal recessive limb-girdle muscular dystrophy type 2L
- progressive scapulohumeroperoneal distal myopathy
- spinal muscular atrophy, type IV
